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Articles tagged with Amyotrophic lateral sclerosis (ALS)

  • Amyotrophic Lateral Sclerosis (ALS)

    Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disorder characterized by progressive degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but 5-10% of cases have a family history of the disease. Since the discovery of mutations in gene encoding…

  • Alsin Related Disorders

    Mutations in the ALS2 gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and autosomal recessive juvenile amyotrophic lateral sclerosis. We present a review of the literature and the case of a 16-year-old boy who is, to the…

  • Vocal Cord Paralysis and Rapid Progressive Motor Neuron Disease by the I113F Mutation in SOD1 Gene

    Familial cases of amyotrophic lateral sclerosis are most frequently caused by mutation in the superoxide dismutase-1 (SOD1) gene. We report a heterozygous I113F mutation in a patient with familial ALS characterized by early and predominant bilateral vocal cord paralysis followed by descending spinal…